[结肠伪瘤参与是严重等离子素缺乏症的表现]
José M Ceresetto1, Romina A López2, Andrés R Humphreys3
1Servicio de Hematología y Hemoterapia, Hospital Británico de Buenos Aires, Argentina.
Medicina
|December 20, 2023
概括
严重的等离子素缺乏,一种罕见的遗传疾病,导致纤维素丰富的伪膜. 这一案例突出显示了一种独特的腹部症状表现,模仿因伪膜沉积而导致的炎症性肠病.
科学领域:
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- 血原缺乏症是一种罕见的自体逆向性疾病,由PLG基因突变引起.
- 它呈现异质,通过富含纤维素的伪膜沉积影响多种组织.
- 严重的形式,影响百万分之一的1.6,表现为结膜炎和粘膜病变,特别是在儿童中.
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